Sickle cell anemia is a genetic blood disorder where red blood cells become stiff and sticky and form into a sickle shape. These sickle cells block blood flow to organs and limbs, causing pain and organ damage. There are two main types - sickle cell trait where a person carries one sickle gene and has no symptoms, and sickle cell anemia where a person has two sickle genes and experiences various complications. Sickle cell anemia is most common in tropical regions of Africa, India, and the Middle East. It affects around 90,000 Americans and is diagnosed through blood tests. Treatments include pain medications, transfusions, and stem cell transplants.

1. Prepared by:
Adil khan.
SICKLE CELL ANEMIA

2. SICKLE CELL ANEMIA:
 Sickle cell anemia is a disease in which the body makes sickle-shaped red
blood cells
 Normal red blood cells are disc-shaped .They move easily through blood
vessels.
 Red blood cells contain an iron-rich protein called hemoglobin. This protein
carries oxygen from the lungs to the rest of the body
 Sickle cells contain abnormal hemoglobin called sickle hemoglobin or
hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle shape.

3.  Sickle cells are stiff and sticky.
 They tend to block blood flow in the blood vessels of the limbs and
other organs. Blocked blood flow can cause pain and organ
damage

4. TYPES
• There are the following types.
• Sickle cell trait (HbAS)
• A person has an HbS gene and normal hemoglobin A gene (HbA).
• Under normal circumstances, these person have no symptoms of sickle cell
disease
• Such children have no symptoms of sickle cell disease.
• Sickle cell anemia (HbSS)
• Person having two HbS genes, one inherited from each parent
• variety of symptoms and complications of sickle cell disease occur

5. SICKLE CELL TRAIT AND SICKLE CELL DISEASE

6. CAUSE
 Red blood cells contain hemoglobin
 Haemoglobin consist of two alpha and two beta chains
 In beta chain a single nucleotide is change, from GAG TO GTG.
 GAG codon code glutamic acid and GTG code valine. So here the whole
protein structure is change and this type of mutation is called miss sense
mutation.
 So miss sense mutation is responsible for sickle cell anemia.

7. EPIDEMIOLOGY
 The highest frequency of sickle cell disease is found in tropical
regions, particularly Africa, India and the Middle-East.
 total of 150,000 affected children born every year in Nigeria alone.
 About 70,000 people in the United States have sickle cell disease
 In Saudi Arabia about 4.2% of the population carry the sickle-cell trait and
0.26% have sickle cell disease
 Sickle Cell Disease (SCD) affects 90,000 Americans

8. DIAGNOSES
• Diagnosis of sickle cell disease and sickle cell trait can be done through
blood testing.
• A special technique is also used called hemoglobin electrophoresis
• Hemoglobin Electrophoresis: A small blood sample is taken and sent to a
laboratory where the percentage of normal and abnormal hemoglobin is
measured.

9. SIGNS AND SYMPTOMS
• The most common symptom of anemia is fatigue (feeling tired or weak). Other
signs and symptoms of anemia include:
• Shortness of breath
• Headaches
• Coldness in the hands and feet
• Jaundice (a yellowish color of the skin or whites of the eyes)
• Hand –foot syndrome due to the blockage of blood vessels in the hands and
feet.
• Organs like spleen and liver also damages.

10. TREATMENT
• Treatment of sickle cell anemia includes:
• pain medications (for example, morphine).
• Anti-inflammatory medications (for example, ibuprofen).
• Antibiotics for infection.
• Intravenous or oral fluids.
• Transfusions of red blood cells are given for anemia.
• Stem cell transplant is performed in young patients with severe sickle cell
disease.

11. Thanks…….